HHML
MCID: HMH003
MIFTS: 22

Hemihyperplasia-Multiple Lipomatosis Syndrome (HHML)

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemihyperplasia-Multiple Lipomatosis Syndrome

Summaries for Hemihyperplasia-Multiple Lipomatosis Syndrome

MalaCards based summary : Hemihyperplasia-Multiple Lipomatosis Syndrome, also known as hhml, is related to pik3ca-related overgrowth spectrum and lipomatosis. An important gene associated with Hemihyperplasia-Multiple Lipomatosis Syndrome is PIK3CA (Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha). Affiliated tissues include skin, kidney and testis, and related phenotypes are scoliosis and microtia

Related Diseases for Hemihyperplasia-Multiple Lipomatosis Syndrome

Diseases related to Hemihyperplasia-Multiple Lipomatosis Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pik3ca-related overgrowth spectrum 11.5
2 lipomatosis 10.6
3 hydrocephalus 10.2

Symptoms & Phenotypes for Hemihyperplasia-Multiple Lipomatosis Syndrome

Human phenotypes related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
2 microtia 59 32 occasional (7.5%) Occasional (29-5%) HP:0008551
3 lipoatrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100578
4 nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0003764
5 multiple lipomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0001012
6 telangiectasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0100585
7 abnormality of the cerebral vasculature 59 32 frequent (33%) Frequent (79-30%) HP:0100659
8 abnormality of the lymphatic system 59 32 occasional (7.5%) Occasional (29-5%) HP:0100763
9 seborrheic dermatitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001051
10 foot polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001829
11 nephroblastoma 59 32 very rare (1%) Very rare (<4-1%) HP:0002667
12 enlarged kidney 59 32 occasional (7.5%) Occasional (29-5%) HP:0000105
13 macrodactyly 59 32 frequent (33%) Frequent (79-30%) HP:0004099
14 overgrowth 59 32 obligate (100%) Obligate (100%) HP:0001548
15 hydrocele testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000034
16 ovarian serous cystadenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012887
17 2-4 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0010714
18 hyperparakeratosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0040009
19 venous abnormality 59 Occasional (29-5%)
20 abnormal venous morphology 32 occasional (7.5%) HP:0002624

Drugs & Therapeutics for Hemihyperplasia-Multiple Lipomatosis Syndrome

Search Clinical Trials , NIH Clinical Center for Hemihyperplasia-Multiple Lipomatosis Syndrome

Genetic Tests for Hemihyperplasia-Multiple Lipomatosis Syndrome

Anatomical Context for Hemihyperplasia-Multiple Lipomatosis Syndrome

MalaCards organs/tissues related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

41
Skin, Kidney, Testis

Publications for Hemihyperplasia-Multiple Lipomatosis Syndrome

Articles related to Hemihyperplasia-Multiple Lipomatosis Syndrome:

# Title Authors Year
1
Hemihyperplasia-multiple lipomatosis syndrome associated with hydrocephalus. ( 25365846 )
2014
2
Two Cases of Hemihyperplasia-Multiple Lipomatosis Syndrome and Review of Asymmetric Hemihyperplasia Syndromes. ( 23458125 )
2013
3
Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth. ( 20105568 )
2010
4
Tumescent liposuction in the treatment of hemihyperplasia multiple lipomatosis syndrome. ( 19438675 )
2009
5
Hemihyperplasia-multiple lipomatosis syndrome (HHML): a challenge in spinal care. ( 19058713 )
2008

Variations for Hemihyperplasia-Multiple Lipomatosis Syndrome

Expression for Hemihyperplasia-Multiple Lipomatosis Syndrome

Search GEO for disease gene expression data for Hemihyperplasia-Multiple Lipomatosis Syndrome.

Pathways for Hemihyperplasia-Multiple Lipomatosis Syndrome

GO Terms for Hemihyperplasia-Multiple Lipomatosis Syndrome

Sources for Hemihyperplasia-Multiple Lipomatosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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